UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55181344_55181351del | CA891842019 | EGFR,EGFR-AS1 | c.2176_2183del (p.Gly726ProfsTer?) c.684_691del c.2335_2342del (p.Gly779ProfsTer?) c.*28+8416_*28+8423del (n.*28+8416_*28+8423del) c.2200_2207del (p.Gly734ProfsTer?) n.1223_1230del c.1534_1541del (p.Gly512ProfsTer?) | |
| 7 | g.55181346C>A | CA455165113 | EGFR,EGFR-AS1 | c.2178C>A (p.Gly726=) c.686C>A c.2337C>A (p.Gly779=) c.*28+8418C>A (n.*28+8418C>A) c.2202C>A (p.Gly734=) n.1225G>T c.1536C>A (p.Gly512=) | dbSNP gnomAD v2 |
| 7 | g.55181346C= | CA1708905382 | EGFR,EGFR-AS1 | c.2178C= (p.Gly726=) c.686C= c.2337C= (p.Gly779=) c.*28+8418C= (n.*28+8418C=) c.2202C= (p.Gly734=) n.1225G= c.1536C= (p.Gly512=) | |
| 7 | g.55181346C>G | CA455165115 | EGFR,EGFR-AS1 | c.2178C>G (p.Gly726=) c.686C>G c.2337C>G (p.Gly779=) c.*28+8418C>G (n.*28+8418C>G) c.2202C>G (p.Gly734=) n.1225G>C c.1536C>G (p.Gly512=) | dbSNP |
| 7 | g.55181346C>T | CA455165116 | EGFR,EGFR-AS1 | c.2178C>T (p.Gly726=) c.686C>T c.2337C>T (p.Gly779=) c.*28+8418C>T (n.*28+8418C>T) c.2202C>T (p.Gly734=) n.1225G>A c.1536C>T (p.Gly512=) | dbSNP |
| 7 | g.55181347A>C | CA367578787 | EGFR,EGFR-AS1 | c.2179A>C (p.Ile727Leu) c.687A>C c.2338A>C (p.Ile780Leu) c.*28+8419A>C (n.*28+8419A>C) c.2203A>C (p.Ile735Leu) n.1224T>G c.1537A>C (p.Ile513Leu) | dbSNP |
| 7 | g.55181347A>G | CA367578785 | EGFR,EGFR-AS1 | c.2179A>G (p.Ile727Val) c.687A>G c.2338A>G (p.Ile780Val) c.*28+8419A>G (n.*28+8419A>G) c.2203A>G (p.Ile735Val) n.1224T>C c.1537A>G (p.Ile513Val) | dbSNP COSMIC |
| 7 | g.55181347A>T | CA367578786 | EGFR,EGFR-AS1 | c.2179A>T (p.Ile727Phe) c.687A>T c.2338A>T (p.Ile780Phe) c.*28+8419A>T (n.*28+8419A>T) c.2203A>T (p.Ile735Phe) n.1224T>A c.1537A>T (p.Ile513Phe) | dbSNP |
| 7 | g.55181348T>A | CA367578788 | EGFR,EGFR-AS1 | c.2180T>A (p.Ile727Asn) c.688T>A c.2339T>A (p.Ile780Asn) c.*28+8420T>A (n.*28+8420T>A) c.2204T>A (p.Ile735Asn) n.1223A>T c.1538T>A (p.Ile513Asn) | dbSNP |
| 7 | g.55181348T>C | CA367578790 | EGFR,EGFR-AS1 | c.2180T>C (p.Ile727Thr) c.688T>C c.2339T>C (p.Ile780Thr) c.*28+8420T>C (n.*28+8420T>C) c.2204T>C (p.Ile735Thr) n.1223A>G c.1538T>C (p.Ile513Thr) | ClinVar dbSNP COSMIC |
| 7 | g.55181348T>G | CA367578789 | EGFR,EGFR-AS1 | c.2180T>G (p.Ile727Ser) c.688T>G c.2339T>G (p.Ile780Ser) c.*28+8420T>G (n.*28+8420T>G) c.2204T>G (p.Ile735Ser) n.1223A>C c.1538T>G (p.Ile513Ser) | dbSNP COSMIC |
| 7 | g.55181348T= | CA1708905385 | EGFR,EGFR-AS1 | c.2180T= (p.Ile727=) c.688T= c.2339T= (p.Ile780=) c.*28+8420T= (n.*28+8420T=) c.2204T= (p.Ile735=) n.1223A= c.1538T= (p.Ile513=) | |
| 7 | g.55181349C>A | CA455165121 | EGFR,EGFR-AS1 | c.2181C>A (p.Ile727=) c.689C>A c.2340C>A (p.Ile780=) c.*28+8421C>A (n.*28+8421C>A) c.2205C>A (p.Ile735=) n.1222G>T c.1539C>A (p.Ile513=) | |
| 7 | g.55181349C= | CA1708905391 | EGFR,EGFR-AS1 | c.2181C= (p.Ile727=) c.689C= c.2340C= (p.Ile780=) c.*28+8421C= (n.*28+8421C=) c.2205C= (p.Ile735=) n.1222G= c.1539C= (p.Ile513=) | |
| 7 | g.55181349C>G | CA367578791 | EGFR,EGFR-AS1 | c.2181C>G (p.Ile727Met) c.689C>G c.2340C>G (p.Ile780Met) c.*28+8421C>G (n.*28+8421C>G) c.2205C>G (p.Ile735Met) n.1222G>C c.1539C>G (p.Ile513Met) | dbSNP |
| 7 | g.55181349C>T | CA135887 | EGFR,EGFR-AS1 | c.2181C>T (p.Ile727=) c.689C>T c.2340C>T (p.Ile780=) c.*28+8421C>T (n.*28+8421C>T) c.2205C>T (p.Ile735=) n.1222G>A c.1539C>T (p.Ile513=) | ClinVar dbSNP |
| 7 | g.55181350T>A | CA367578792 | EGFR,EGFR-AS1 | c.2182T>A (p.Cys728Ser) c.690T>A c.2341T>A (p.Cys781Ser) c.*28+8422T>A (n.*28+8422T>A) c.2206T>A (p.Cys736Ser) n.1221A>T c.1540T>A (p.Cys514Ser) | dbSNP |
| 7 | g.55181350T>C | CA367578793 | EGFR,EGFR-AS1 | c.2182T>C (p.Cys728Arg) c.690T>C c.2341T>C (p.Cys781Arg) c.*28+8422T>C (n.*28+8422T>C) c.2206T>C (p.Cys736Arg) n.1221A>G c.1540T>C (p.Cys514Arg) | dbSNP |
| 7 | g.55181350T>G | CA367578794 | EGFR,EGFR-AS1 | c.2182T>G (p.Cys728Gly) c.690T>G c.2341T>G (p.Cys781Gly) c.*28+8422T>G (n.*28+8422T>G) c.2206T>G (p.Cys736Gly) n.1221A>C c.1540T>G (p.Cys514Gly) | |
| 7 | g.55181351G>A | CA367578795 | EGFR,EGFR-AS1 | c.2183G>A (p.Cys728Tyr) c.691G>A c.2342G>A (p.Cys781Tyr) c.*28+8423G>A (n.*28+8423G>A) c.2207G>A (p.Cys736Tyr) n.1220C>T c.1541G>A (p.Cys514Tyr) | dbSNP gnomAD v4 |
| 7 | g.55181351G>C | CA367578796 | EGFR,EGFR-AS1 | c.2183G>C (p.Cys728Ser) c.691G>C c.2342G>C (p.Cys781Ser) c.*28+8423G>C (n.*28+8423G>C) c.2207G>C (p.Cys736Ser) n.1220C>G c.1541G>C (p.Cys514Ser) | dbSNP |
| 7 | g.55181351G>T | CA367578797 | EGFR,EGFR-AS1 | c.2183G>T (p.Cys728Phe) c.691G>T c.2342G>T (p.Cys781Phe) c.*28+8423G>T (n.*28+8423G>T) c.2207G>T (p.Cys736Phe) n.1220C>A c.1541G>T (p.Cys514Phe) | COSMIC |
| 7 | g.55181352C>A | CA367578798 | EGFR,EGFR-AS1 | c.2184C>A (p.Cys728Ter) c.692C>A c.2343C>A (p.Cys781Ter) c.*28+8424C>A (n.*28+8424C>A) c.2208C>A (p.Cys736Ter) n.1219G>T c.1542C>A (p.Cys514Ter) | dbSNP |
| 7 | g.55181352C>G | CA367578799 | EGFR,EGFR-AS1 | c.2184C>G (p.Cys728Trp) c.692C>G c.2343C>G (p.Cys781Trp) c.*28+8424C>G (n.*28+8424C>G) c.2208C>G (p.Cys736Trp) n.1219G>C c.1542C>G (p.Cys514Trp) | dbSNP |
| 7 | g.55181352C>T | CA455165127 | EGFR,EGFR-AS1 | c.2184C>T (p.Cys728=) c.692C>T c.2343C>T (p.Cys781=) c.*28+8424C>T (n.*28+8424C>T) c.2208C>T (p.Cys736=) n.1219G>A c.1542C>T (p.Cys514=) | dbSNP |
| 7 | g.55181353C>A | CA367578800 | EGFR,EGFR-AS1 | c.2185C>A (p.Leu729Ile) c.693C>A c.2344C>A (p.Leu782Ile) c.*28+8425C>A (n.*28+8425C>A) c.2209C>A (p.Leu737Ile) n.1218G>T c.1543C>A (p.Leu515Ile) | dbSNP |
| 7 | g.55181353C>G | CA367578801 | EGFR,EGFR-AS1 | c.2185C>G (p.Leu729Val) c.693C>G c.2344C>G (p.Leu782Val) c.*28+8425C>G (n.*28+8425C>G) c.2209C>G (p.Leu737Val) n.1218G>C c.1543C>G (p.Leu515Val) | |
| 7 | g.55181353C>T | CA367578802 | EGFR,EGFR-AS1 | c.2185C>T (p.Leu729Phe) c.693C>T c.2344C>T (p.Leu782Phe) c.*28+8425C>T (n.*28+8425C>T) c.2209C>T (p.Leu737Phe) n.1218G>A c.1543C>T (p.Leu515Phe) | dbSNP |
| 7 | g.55181353_55181354delinsAA | CA645561608 | EGFR,EGFR-AS1 | c.2185_2186delinsAA (p.Leu729Asn) c.693_694delinsAA c.2344_2345delinsAA (p.Leu782Asn) c.*28+8425_*28+8426delinsAA (n.*28+8425_*28+8426delinsAA) c.2209_2210delinsAA (p.Leu737Asn) n.1217_1218delinsTT c.1543_1544delinsAA (p.Leu515Asn) | COSMIC |
| 7 | g.55181354T>A | CA367578805 | EGFR,EGFR-AS1 | c.2186T>A (p.Leu729His) c.694T>A c.2345T>A (p.Leu782His) c.*28+8426T>A (n.*28+8426T>A) c.2210T>A (p.Leu737His) n.1217A>T c.1544T>A (p.Leu515His) | |
| 7 | g.55181354T>C | CA367578803 | EGFR,EGFR-AS1 | c.2186T>C (p.Leu729Pro) c.694T>C c.2345T>C (p.Leu782Pro) c.*28+8426T>C (n.*28+8426T>C) c.2210T>C (p.Leu737Pro) n.1217A>G c.1544T>C (p.Leu515Pro) | |
| 7 | g.55181354T>G | CA367578804 | EGFR,EGFR-AS1 | c.2186T>G (p.Leu729Arg) c.694T>G c.2345T>G (p.Leu782Arg) c.*28+8426T>G (n.*28+8426T>G) c.2210T>G (p.Leu737Arg) n.1217A>C c.1544T>G (p.Leu515Arg) | |
| 7 | g.55181355C>A | CA455165130 | EGFR,EGFR-AS1 | c.2187C>A (p.Leu729=) c.695C>A c.2346C>A (p.Leu782=) c.*28+8427C>A (n.*28+8427C>A) c.2211C>A (p.Leu737=) n.1216G>T c.1545C>A (p.Leu515=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.55181355C= | CA1708905395 | EGFR,EGFR-AS1 | c.2187C= (p.Leu729=) c.695C= c.2346C= (p.Leu782=) c.*28+8427C= (n.*28+8427C=) c.2211C= (p.Leu737=) n.1216G= c.1545C= (p.Leu515=) | |
| 7 | g.55181355C>G | CA455165132 | EGFR,EGFR-AS1 | c.2187C>G (p.Leu729=) c.695C>G c.2346C>G (p.Leu782=) c.*28+8427C>G (n.*28+8427C>G) c.2211C>G (p.Leu737=) n.1216G>C c.1545C>G (p.Leu515=) | dbSNP gnomAD v4 |
| 7 | g.55181355C>T | CA455165133 | EGFR,EGFR-AS1 | c.2187C>T (p.Leu729=) c.695C>T c.2346C>T (p.Leu782=) c.*28+8427C>T (n.*28+8427C>T) c.2211C>T (p.Leu737=) n.1216G>A c.1545C>T (p.Leu515=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55181356A>C | CA367578806 | EGFR,EGFR-AS1 | c.2188A>C (p.Thr730Pro) c.696A>C c.2347A>C (p.Thr783Pro) c.*28+8428A>C (n.*28+8428A>C) c.2212A>C (p.Thr738Pro) n.1215T>G c.1546A>C (p.Thr516Pro) | dbSNP |
| 7 | g.55181356A>G | CA367578807 | EGFR,EGFR-AS1 | c.2188A>G (p.Thr730Ala) c.696A>G c.2347A>G (p.Thr783Ala) c.*28+8428A>G (n.*28+8428A>G) c.2212A>G (p.Thr738Ala) n.1215T>C c.1546A>G (p.Thr516Ala) | dbSNP |
| 7 | g.55181356A>T | CA367578808 | EGFR,EGFR-AS1 | c.2188A>T (p.Thr730Ser) c.696A>T c.2347A>T (p.Thr783Ser) c.*28+8428A>T (n.*28+8428A>T) c.2212A>T (p.Thr738Ser) n.1215T>A c.1546A>T (p.Thr516Ser) | dbSNP |
| 7 | g.55181357C>A | CA367578809 | EGFR,EGFR-AS1 | c.2189C>A (p.Thr730Asn) c.697C>A c.2348C>A (p.Thr783Asn) c.*28+8429C>A (n.*28+8429C>A) c.2213C>A (p.Thr738Asn) n.1214G>T c.1547C>A (p.Thr516Asn) | dbSNP |
| 7 | g.55181357C>G | CA367578810 | EGFR,EGFR-AS1 | c.2189C>G (p.Thr730Ser) c.697C>G c.2348C>G (p.Thr783Ser) c.*28+8429C>G (n.*28+8429C>G) c.2213C>G (p.Thr738Ser) n.1214G>C c.1547C>G (p.Thr516Ser) | dbSNP |
| 7 | g.55181357C>T | CA367578811 | EGFR,EGFR-AS1 | c.2189C>T (p.Thr730Ile) c.697C>T c.2348C>T (p.Thr783Ile) c.*28+8429C>T (n.*28+8429C>T) c.2213C>T (p.Thr738Ile) n.1214G>A c.1547C>T (p.Thr516Ile) | dbSNP COSMIC |
| 7 | g.55181358C>A | CA4266057 | EGFR,EGFR-AS1 | c.2190C>A (p.Thr730=) c.698C>A c.2349C>A (p.Thr783=) c.*28+8430C>A (n.*28+8430C>A) c.2214C>A (p.Thr738=) n.1213G>T c.1548C>A (p.Thr516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55181358C= | CA1708905403 | EGFR,EGFR-AS1 | c.2190C= (p.Thr730=) c.698C= c.2349C= (p.Thr783=) c.*28+8430C= (n.*28+8430C=) c.2214C= (p.Thr738=) n.1213G= c.1548C= (p.Thr516=) | |
| 7 | g.55181358C>G | CA455165137 | EGFR,EGFR-AS1 | c.2190C>G (p.Thr730=) c.698C>G c.2349C>G (p.Thr783=) c.*28+8430C>G (n.*28+8430C>G) c.2214C>G (p.Thr738=) n.1213G>C c.1548C>G (p.Thr516=) | dbSNP |
| 7 | g.55181358C>T | CA135890 | EGFR,EGFR-AS1 | c.2190C>T (p.Thr730=) c.698C>T c.2349C>T (p.Thr783=) c.*28+8430C>T (n.*28+8430C>T) c.2214C>T (p.Thr738=) n.1213G>A c.1548C>T (p.Thr516=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55181359T>A | CA367578812 | EGFR,EGFR-AS1 | c.2191T>A (p.Ser731Thr) c.699T>A c.2350T>A (p.Ser784Thr) c.*28+8431T>A (n.*28+8431T>A) c.2215T>A (p.Ser739Thr) n.1212A>T c.1549T>A (p.Ser517Thr) | |
| 7 | g.55181359T>C | CA367578813 | EGFR,EGFR-AS1 | c.2191T>C (p.Ser731Pro) c.699T>C c.2350T>C (p.Ser784Pro) c.*28+8431T>C (n.*28+8431T>C) c.2215T>C (p.Ser739Pro) n.1212A>G c.1549T>C (p.Ser517Pro) | dbSNP gnomAD v4 COSMIC |
| 7 | g.55181359T>G | CA367578814 | EGFR,EGFR-AS1 | c.2191T>G (p.Ser731Ala) c.699T>G c.2350T>G (p.Ser784Ala) c.*28+8431T>G (n.*28+8431T>G) c.2215T>G (p.Ser739Ala) n.1212A>C c.1549T>G (p.Ser517Ala) | |
| 7 | g.55181360C>A | CA367578816 | EGFR,EGFR-AS1 | c.2192C>A (p.Ser731Tyr) c.700C>A c.2351C>A (p.Ser784Tyr) c.*28+8432C>A (n.*28+8432C>A) c.2216C>A (p.Ser739Tyr) n.1211G>T c.1550C>A (p.Ser517Tyr) | dbSNP COSMIC |